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MutaGEL® Aldolase B PCR Assay

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 Product Description

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MutaGEL® Aldolase B PCR Assay Kit
For Research Use Only
Size:  24 Samples
Method:  PCR (allel specific)
Sample Type:  DNA (e.g.whole blood, cheek swab) 
Sample Size: 200 µL

Product Developed and Manufactured by Immundiagnostik

Intended Use
The Eagle Biosciences MutaGEL® Aldolase B (fructosemia A150P - allelspecific) allows the detection of the comon mutation "codon 150P" in the human fructaldolase (aldolase B) gene by direct allelspecific detection of genotype.

Assay Principle

The Eagle Biosciences MutaGEL® Aldolase B (AS) is an amplification refractionary mutation system (ARMS) containing two sets of primers for both allelspecific sequences within the fructaldolase gene. The sequence specific primers can be used directly for PCR with extracted DNA. The resulting amplification products are subsequently identified with gelelectrophoretic methods. If there is no specific allel product detectable, the correct PCR procedure is proved by an internal control. The present genotype of unknown samples is interpreted by detection of corresponding DNA-amplificates for normal (G) - and mutation (C) - constellation in two separate lanes of the gel (method by Dr. Essrich, Biologisches Labor, Denzlingen).

Assay Background

The liver isoenzyme Aldolase B is critical for sugar metabolism, and a catalytic deficiency due to mutations in its gene may result in hereditary fructose intolerance (HFI) syndrome, with hypoglycaemia and severe abdominal symptoms.

The autosomal recessive disorder HFI is a potentially lethal inborn error in metabolism and the disease poses diagnostic problems because of in part very unspecific clinical manifestations. The present aldolase B PCR test is useful for the detection of the three most common mutations critical for gluconeogenesis and fructose metabolism: A149P (60%), A174D (11%) and N334K (8%). These mutations may account together for more than 80% of all known mutations causing HFI and their screening will be helpful for suited therapy of afflicted patients.

The G>C mutation at bp position 448 results in an amino-acid exchange (from alanine to praline) at position 150 (earlier 149). Frequency of that mutation is 1:250 in Caucasians and disease by homozygous presence of C-allel is about 1:50000 (=0.002%).

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Eagle Biosciences, Inc.
20A NW Blvd., Suite 112
Nashua, NH 03063
Email: info@eaglebio.com
Toll Free: 866-411-8023
International: +617-419-2019

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